Article
Clinical, biochemical and genetic features with nonclassical 21-hydroxylase deficiency and final height.
Journal of pediatric endocrinology & metabolism : JPEM - 26 Jul 2017
Savaş-Erdeve Şenay, Çetinkaya Semra, Abalı Zehra Yavaş, Poyrazoğlu Şükran, Baş Firdevs, Berberoğlu Merih, Sıklar Zeynep, Korkmaz Özlem, Buluş Derya, Akbaş Emine Demet, Güran Tülay, Böber Ece, Akın Onur, Yılmaz Gülay Can, Aycan Zehra
Abstract excerpt
BACKGROUND: The clinical, laboratory, genetic properties and final height of a large cohort of patients with nonclassical 21-hydroxylase deficiency (NC21OHD) in Turkey were analyzed. METHODS: This multicenter, nationwide web-based study collected data. RESULTS: The mean age was 9.79±4.35 years (229 girls, 29 boys). The most common symptoms were premature pubarche (54.6%) and hirsutism (28.6%). The peak cortisol...
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